rs727503969
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727503969(A;T) |
Make rs727503969(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 121826182 |
Gene | IQCB1 |
is a | snp |
is | mentioned by |
dbSNP | rs727503969 |
dbSNP (classic) | rs727503969 |
ClinGen | rs727503969 |
ebi | rs727503969 |
HLI | rs727503969 |
Exac | rs727503969 |
Gnomad | rs727503969 |
Varsome | rs727503969 |
LitVar | rs727503969 |
Map | rs727503969 |
PheGenI | rs727503969 |
Biobank | rs727503969 |
1000 genomes | rs727503969 |
hgdp | rs727503969 |
ensembl | rs727503969 |
geneview | rs727503969 |
scholar | rs727503969 |
rs727503969 | |
pharmgkb | rs727503969 |
gwascentral | rs727503969 |
openSNP | rs727503969 |
23andMe | rs727503969 |
SNPshot | rs727503969 |
SNPdbe | rs727503969 |
MSV3d | rs727503969 |
GWAS Ctlg | rs727503969 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503969(T;T) |
Alt | rs727503969(T;T) |
Reference | Rs727503969(A;A) |
Significance | Pathogenic |
Disease | not provided Senior-Loken syndrome 5 |
Variation | info |
Gene | IQCB1 |
CLNDBN | not provided Senior-Loken syndrome 5 |
Reversed | 1 |
HGVS | NC_000003.11:g.121545029T>A |
CLNSRC | |
CLNACC | RCV000153384.2, RCV000178818.1, |